Browsing HMS Scholarly Articles by Title
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Choroidal Neovascular Membrane Formation and Retinochoroidopathy in a Patient with Systemic Langerhans Cell Histiocytosis: A Case Report and Review of the Literature
(S. Karger AG, 2012)We report a case of bilateral atrophic retinochoroidopathy with choroidal neovascular membrane (CNVM) formation in a patient with systemic Langerhans cell histiocytosis (LCH). A 35-year-old female, diagnosed with LCH at ... -
The CHR Promoter Element Controls Cell Cycle-Dependent Gene Transcription and Binds the DREAM and MMB Complexes
(Oxford University Press, 2011)Cell cycle-dependent gene expression is often controlled on the transcriptional level. Genes like \(cyclin B, CDC2\) and \(CDC25C\) are regulated by cell cycle-dependent element (CDE) and cell cycle genes homology region ... -
Chromatin Loops as Allosteric Modulators of Enhancer-Promoter Interactions
(Public Library of Science, 2014)The classic model of eukaryotic gene expression requires direct spatial contact between a distal enhancer and a proximal promoter. Recent Chromosome Conformation Capture (3C) studies show that enhancers and promoters are ... -
Chromatin Modifying Enzymes as Modulators of Reprogramming
(Nature Publishing Group, 2012)Generation of induced pluripotent stem cells (iPSCs) by somatic cell reprogramming involves global epigenetic remodeling. While several proteins are known to regulate chromatin marks associated with the distinct epigenetic ... -
The Chromatin Remodeling Factor CHD5 Is a Transcriptional Repressor of WEE1
(Public Library of Science, 2014)Loss of the chromatin remodeling ATPase CHD5 has been linked to the progression of neuroblastoma tumors, yet the underlying mechanisms behind the tumor suppressor role of CHD5 are unknown. In this study, we purified the ... -
Chromatin Signature Identifies Monoallelic Gene Expression Across Mammalian Cell Types
(Genetics Society of America, 2015)Monoallelic expression of autosomal genes (MAE) is a widespread epigenetic phenomenon which is poorly understood, due in part to current limitations of genome-wide approaches for assessing it. Recently, we reported that a ... -
Chromatin signature of widespread monoallelic expression
(eLife Sciences Publications, Ltd, 2013)In mammals, numerous autosomal genes are subject to mitotically stable monoallelic expression (MAE), including genes that play critical roles in a variety of human diseases. Due to challenges posed by the clonal nature of ... -
Chromatin signatures at transcriptional start sites separate two equally populated yet distinct classes of intergenic long noncoding RNAs
(BioMed Central, 2013)Background: Mammalian transcriptomes contain thousands of long noncoding RNAs (lncRNAs). Some lncRNAs originate from intragenic enhancers which, when active, behave as alternative promoters producing transcripts that are ... -
Chromatin topology is coupled to Polycomb group protein subnuclear organization
(Nature Publishing Group, 2016)The genomes of metazoa are organized at multiple scales. Many proteins that regulate genome architecture, including Polycomb group (PcG) proteins, form subnuclear structures. Deciphering mechanistic links between protein ... -
Chromatin- and Transcription-Related Factors Repress Transcription from within Coding Regions throughout the Saccharomyces cerevisiae Genome
(Public Library of Science, 2008)Previous studies in Saccharomyces cerevisiae have demonstrated that cryptic promoters within coding regions activate transcription in particular mutants. We have performed a comprehensive analysis of cryptic transcription ... -
Chromatinized Templates Reveal the Requirement for the LEDGF/p75 PWWP Domain During HIV-1 Integration in vitro
(Oxford University Press, 2008)Integration is an essential step in the retroviral lifecycle, and the lentiviral integrase binding protein lens epithelium-derived growth factor (LEDGF)/p75 plays a crucial role during human immunodeficiency virus type 1 ... -
Chromosomal Alterations Among Age-Related Haematopoietic Clones in Japan
(Springer Science and Business Media LLC, 2020-06-24) -
Chromosomal Architecture Changes upon Cell Differentiation
(BioMed Central, 2013) -
Chromosomal copy number alterations for associations of ductal carcinoma in situ with invasive breast cancer
(BioMed Central, 2015)Introduction: Screening mammography has contributed to a significant increase in the diagnosis of ductal carcinoma in situ (DCIS), raising concerns about overdiagnosis and overtreatment. Building on prior observations from ... -
The Chromosomal Passenger Complex Activates Polo Kinase at Centromeres
(Public Library of Science, 2012)The coordinated activities at centromeres of two key cell cycle kinases, Polo and Aurora B, are critical for ensuring that the two sister kinetochores of each chromosome are attached to microtubules from opposite spindle ... -
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
(BioMed Central, 2014)Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely ... -
Chromosome Tips Damaged in Anaphase Inhibit Cytokinesis
(Public Library of Science, 2010)Genome maintenance is ensured by a variety of biochemical sensors and pathways that repair accumulated damage. During mitosis, the mechanisms that sense and resolve DNA damage remain elusive. Studies have demonstrated that ... -
Chromosome X-Wide Association Study Identifies Loci for Fasting Insulin and Height and Evidence for Incomplete Dosage Compensation
(Public Library of Science, 2014)The X chromosome (chrX) represents one potential source for the “missing heritability” for complex phenotypes, which thus far has remained underanalyzed in genome-wide association studies (GWAS). Here we demonstrate the ... -
CHROMOTHRIPSIS FROM DNA DAMAGE IN MICRONUCLEI
(2015)Genome sequencing has uncovered a new mutational phenomenon in cancer and congenital disorders called chromothripsis. Chromothripsis is characterized by extensive genomic rearrangements and an oscillating pattern of DNA ...